U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.2370_2389+20del AND Familial hypercholesterolemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000809786.7

Allele description [Variation Report for NM_000527.5(LDLR):c.2370_2389+20del]

NM_000527.5(LDLR):c.2370_2389+20del

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2370_2389+20del
HGVS:
  • NC_000019.10:g.11128066_11128105del
  • NG_009060.1:g.43686_43725del
  • NM_000527.5:c.2370_2389+20delMANE SELECT
  • NM_001195798.2:c.2370_2389+20del
  • NM_001195799.2:c.2247_2266+20del
  • NM_001195800.2:c.1866_1885+20del
  • NM_001195803.2:c.1836_1855+20del
  • LRG_274t1:c.2370_2389+20del
  • LRG_274:g.43686_43725del
  • NC_000019.9:g.11238742_11238781del
  • NM_000527.4:c.2370_2389+20del
  • NM_000527.4:c.2370_2389+20delGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC
Links:
dbSNP: rs1600762098
NCBI 1000 Genomes Browser:
rs1600762098
Molecular consequence:
  • NM_000527.5:c.2370_2389+20del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195798.2:c.2370_2389+20del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195799.2:c.2247_2266+20del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195800.2:c.1866_1885+20del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195803.2:c.1836_1855+20del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial hypercholesterolemia
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000949961Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Jan 8, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]
PMID:
20809525
PMCID:
PMC3152176

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000949961.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant is a deletion of the genomic region encompassing part of exon 16 (c.2370_2389+20del) of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with LDLR-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024